Gaucher's disease: clinical features and natural history
Gaucher's disease: clinical features and natural history
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DOI：
10.1016/s0950-3536(97)80033-9
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发表时间：
1997-12-01
期刊：
影响因子：
--
通讯作者：
Schofield, JP
中科院分区：
文献类型：
--
作者：
Cox, TM;Schofield, JP
戈谢病是一种遗传性疾病，其特征是单核吞噬细胞中糖脂病理性储存：它是一种多系统疾病，其临床表现、严重程度和病程存在显着差异。尽管对戈谢病患者葡萄糖脑苷脂酶基因的分子分析已允许在基因型和表型之间建立广泛的相关性，但除了少数例外，该位点的遗传变异不允许对临床表型或预后进行可靠的预测。葡萄糖脑苷脂酶的部分缺乏主要与肝、脾、骨髓的实质疾病有关，在严重的情况下，与肺的实质疾病有关，在非神经元病、1型戈谢病中：此处巨噬细胞中的储存物质源自外源性糖脂的周转。由失能突变引起的葡萄糖脑苷脂酶严重缺乏还与神经系统表现相关，部分反映了内源性神经元糖鞘脂降解失败，即所谓的神经病性、2 型和 3 型疾病类别。在这里，我们主要描述 1 型戈谢病的临床特征、并发症和自然病程：重点是出现的肺部、骨骼和其他对酶替代疗法反应不佳的不明发病机制的表现。
Gaucher's disease is an inherited disorder characterized by pathological storage of glycolipid in mononuclear phagocytes: it is a multi-system disease associated with striking variation in its clinical manifestations, severity and course. Although molecular analysis of the glucocerebrosidase gene in patients with Gaucher's disease has permitted broad correlations between genotype and phenotype to be made, with few exceptions genetic variation at this locus does not allow confident prediction of clinical phenotype or prognosis. Partial deficiency of glucocerebrosidase is associated principally with parenchymal disease of the liver, spleen, bone marrow and, in severe cases, the lung, in non-neuronopathic, Type 1, Gaucher's disease: here storage material in macrophages originates from turnover of exogenous glycolipids. Severe deficiency of glucocerebrosidase caused by disabling mutations is additionally associated with neurological manifestations that in part reflect a failure to degrade endogenous neuronal glycosphingolipids, the so-called neuronopathic, Type 2 and Type 3 disease categories. Here we describe the clinical features, complications and natural history principally of Type 1 Gaucher's disease: emphasis is placed on emerging pulmonary, osseous and other manifestations of obscure pathogenesis that respond poorly to enzyme-replacement therapy.